Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis
Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist | Yap Sook Yee, Parent and SMA Advocate
21-Aug-24 16:00
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For a family of a child with spinal muscular atrophy (SMA), life could be divided into moments of Before and After. Before refers to the period when the parents were expecting their child and before he/she came to be diagnosed with this genetic condition. After, of course, heralds how life changed following the diagnosis. In both periods, families have very little knowledge, information and guidance related to SMA, whether in terms of prevention through genetic screening, or navigating the journey of lifelong support and interventions. In conjunction with August being SMA Awareness Month, we speak to Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist and Yap Sook Yee, Parent and SMA Advocate, on the realities of screening, diagnosis and preparing for the journey ahead.
Image credit: ap Sook Yee & Edmund Lim
Produced by: Tee Shiao Eek
Presented by: Tee Shiao Eek
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Categories: wellness, managing disease, medical advances
Tags: orphan drug, the bigger picture, health and living, spinal muscular atrophy, rare disease, disability, genetic disease, genetic testing,